Hashimoto N, Makino H
Second Department of Internal Medicine, Chiba University School of Medicine.
Nihon Rinsho. 1994 Oct;52(10):2637-40.
Type C insulin resistance in insulin receptor mutations is characterized by normal insulin binding to cultured fibroblasts or EB virus transformed lymphocytes from the patients and decreased insulin receptor kinase activities. However, it is sometimes difficult to classify the state of insulin resistance clearly. The intracellular beta-subunit mutations of insulin receptor which showed decreased kinase activities is reviewed here. Moreover, two cases with typical type C insulin resistance reported previously are also described. One is a case with deletion of the tyrosine kinase domain of the insulin receptor and the other is a Glycine-1008 to Valine mutation. Our studies suggest that the insulin resistance associated with these mutated genes in the kinase domain of insulin receptor were inherited, as an autosomal dominant trait.
胰岛素受体突变所致的C型胰岛素抵抗的特征是，胰岛素与患者培养的成纤维细胞或EB病毒转化的淋巴细胞正常结合，但胰岛素受体激酶活性降低。然而，有时很难明确分类胰岛素抵抗的状态。本文综述了胰岛素受体细胞内β亚基突变导致激酶活性降低的情况。此外，还描述了先前报道的两例典型的C型胰岛素抵抗病例。一例是胰岛素受体酪氨酸激酶结构域缺失的病例，另一例是甘氨酸1008突变为缬氨酸的病例。我们的研究表明，与胰岛素受体激酶结构域中这些突变基因相关的胰岛素抵抗是以常染色体显性性状遗传的。
